dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81074718T>G , CM000670.2:g.81074718T>G | GRCh38 |
| NC_000008.10:g.81986953T>G , CM000670.1:g.81986953T>G | GRCh37 |
| NC_000008.9:g.82149508T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220597.4:c.-233-4548A>C MANE Select | ENSP00000220597.3:n.-233-4548A>C | |
| NM_018440.3:c.-233-4548A>C | NP_060910.3:n.-233-4548A>C | |
| XM_011517564.1:c.-358+36873A>C | XP_011515866.1:n.-358+36873A>C | |
| XR_928792.1:n.477-4548A>C | ||
| XM_017013640.2:c.-175+36873A>C | XP_016869129.1:n.-175+36873A>C | |
| XR_928792.3:n.474-4548A>C | ||
| NM_018440.4:c.-233-4548A>C MANE Select | NP_060910.3:n.-233-4548A>C |